Monosomy
|
group |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
214
|
11
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Laryngeal cleft
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
72
|
4
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Acute intermittent porphyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
103
|
68
|
1.000 |
strong |
0.983 |
173 |
60
|
1974 |
2020 |
Disorders of Porphyrin Metabolism
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
26
|
7
|
0.080 |
None |
1.000 |
8 |
2
|
1978 |
2013 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.040 |
None |
1.000 |
4 |
|
2005 |
2019 |
Variegate Porphyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
21
|
24
|
0.040 |
None |
1.000 |
4 |
|
1985 |
2015 |
Acute interstitial pneumonia
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
88
|
8
|
0.040 |
None |
1.000 |
4 |
|
2002 |
2019 |
Porphyrias, Hepatic
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
7
|
|
0.220 |
None |
1.000 |
3 |
|
1984 |
2006 |
Hydroxymethylbilane Synthase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
2
|
|
0.310 |
None |
1.000 |
3 |
|
1983 |
2013 |
Peripheral motor neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
64
|
20
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2002 |
Homozygous acute intermittent porphyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
|
0.020 |
None |
1.000 |
2 |
|
1992 |
2002 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2019 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Amyloidosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
694
|
93
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.010 |
None |
1.000 |
1 |
2
|
2019 |
2019 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Decompression Sickness
|
disease |
Wounds and Injuries
|
Disease or Syndrome
|
98
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hyperbilirubinemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
131
|
27
|
0.200 |
None |
1.000 |
1 |
|
1986 |
1986 |
Hyperbilirubinemia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
8
|
|
0.200 |
None |
1.000 |
1 |
|
1986 |
1986 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.110 |
None |
1.000 |
1 |
1
|
2018 |
2018 |